E46G (p.Glu46Gly) variant of COL4A5 (Collagen alpha-5(IV) chain)
E46G (p.Glu46Gly) in COL4A5 (Collagen alpha-5(IV) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of X-linked Alport syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes published literature and structural context.
E46G (p.Glu46Gly) variant details
- p.Glu46Gly
- rs2147657717
- ClinGen CA413908914
- ClinVar RCV001420356
- Ensembl rs2147657717
- Likely benign
- X-linked Alport syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.551
- AlphaMissense 0.16
- MetaLR 0.66
- MetaSVM 0.40
- PolyPhen-2 0.77
- SIFT 0.03
- EVE 0.28
- ClinVar: Likely benign (X-linked Alport syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- Cited in: Alport Syndrome. (PMID 20301386)
- Cited in: Clinical utility gene card for: Alport syndrome. (PMID 22166944)